rs28931580
This is a variant in the AQP2 gene that changes a glutamine to an proline.
▶ClinVar annotation
Diabetes insipidus, nephrogenic, autosomal (NDI2)
View on ClinVar →▶Research that mentions this SNP (1)
▶Genetic variation in human aquaporins and effects on phenotypes of water homeostasisReviewMarco D. Sorani et al.(2008)· Human Mutation
This review article examines genetic variation in human aquaporins (AQPs), a family of 13 water and solute transport proteins, and their effects on water homeostasis phenotypes. The authors catalog naturally-occurring variants in AQP genes from published studies and genomic databases (HapMap, Celera, Perlegen), focusing on nonsynonymous mutations. They analyze functional domains critical for AQP function (NPA pore motifs, transmembrane domains, posttranslational modification sites) and use structural analysis to predict effects of uncharacterized variants. The paper identifies multiple disease-associated AQP mutations causing phenotypes including nephrogenic diabetes insipidus (AQP2), cataracts (AQP0/MIP), and Sjögren syndrome (AQP5).
About AQP2
This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
View all AQP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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